"There are some who are in darkness. And the others are in light. And you see the ones in brightness. Those in darkness drop from sight."
With these words from the Threepenny Opera by Berthold Brecht, a native of Augsburg, Eva Luise Köhler opened her welcoming address to the Augsburg Rare Disease Day, which was hosted by the Center for Rare Diseases of the Augsburg University Hospital on September 24. Not being seen, being in the dark - these are experiences that people with rare diseases still have to go through far too often, explained the Chairwoman of the Board of Trustees of the Eva Luise and Horst Köhler Foundation and emphasized: "There are many rare people. On average, one in 17 will develop one of the approximately 8,000 known rare diseases during lifetime. Worldwide, 300 million people are affected, in the European Union around 30 million, in Germany alone over four million. And not least because of ever new diagnostic possibilities and findings, the numbers are tending to rise sharply.
For Eva Luise Köhler, one thing is certain: each and every one of these many people has the same right to health and the best possible medical care. Unfortunately, this is still not a matter of course, even in one of the best healthcare systems in the world. But there is also light in the darkness, she said, because with the more than 35 centers for rare diseases in Germany, real beacons of care have been created in recent years. Eva Luise Köhler thanked the director of the Augsburg center, Dr. Desirée Dunstheimer, and her team for their commitment and valuable work: "Every day, you live the cooperation and look beyond one's own nose, which is generally important in medicine, but indispensable for rare diseases. From the bottom of our hearts, thank you for that."
It is now important to transfer the care paths successfully explored in the TRANSLATE-NAMSE project to standard care and to finance them sustainably. In addition, the "orphans of medicine" need a courageous research offensive that also includes digitalization in particular, because: "No one will benefit more from digitalization in medicine, which will usher in a new era for all of us, than people with rare diseases." In conclusion, Eva Luise Köhler appealed to the approximately 100 guests in the room to continue to fight together for the interests of "the rare" and thus ensure that the immense medical progress actually reaches everyone.
Afterwards, specific aspects of this medical progress werde addressed by Prof. Dr. Annette Grüters-Kieslich, Vorsitzende der Eva Luise und Horst Köhler Stiftung für Menschen mit Seltenen Erkrankungen, in ihrem Vortrag „Seltene Erkrankungen und ihre Bedeutung für häufige Erkrankungen“ ein. An Beispielen aus ihrer eigenen Forschungstätigkeit in der Kinderendokrinologie zeigte sie, dass Seltene Erkrankungen keineswegs Orchideen- oder Kolibri-Erkrankungen sind, sondern wegweisend für das Verstehen von Krankheitsmechanismen häufiger Erkrankungen wie Osteoporose und Adipositas. Für Prof. Dr. Grüters-Kieslich sind „die Seltenen“ ein Präzedenzfall der individualisierten, personalisierten Medizin, da sich Erkrankungen aufgrund der genetischen und molekularen Grundlagen zunehmend in viele Unterformen Seltener Erkrankungen einteilen lassen. Sie verwies darauf, dass fast jeden Tag die genetische Ursache einer Seltenen Erkrankung identifiziert wird. Die renommierte Kinderärztin ist überzeugt, dass die fast 100 Jahre alte Erkenntnis von Archibald Garrod, dem „Father of Genetics“, auch im Zeitalter der neuen Technologien Bestand haben wird:
‘‘The study of nature’s experiments is of special value and many lessons which rare maladies can teach could hardly be learned in other ways.’’
The local channel a.tv was also on site and reports here about the event.